Caring for children with neurofibromatosis type 1.

This article discusses the variable physical manifestations of neurofibromatosis type 1 among children in terms of presentation, disease severity, and prognosis, and addresses appropriate nursing interventions and patient teaching.

Feasibility and Preliminary Efficacy of an Internet Support Group for Parents of a Child with Neurofibromatosis Type 1: a Pilot Study.

This pilot study investigated the feasibility and preliminary efficacy of an Internet Support Group (ISG) for parents of children with NF1. Eligible parents were recruited by email and completed baseline questionnaires assessing social support, self-efficacy, depression, and anxiety. The ISG involved eight weekly 90-min chat sessions and a discussion forum open 24 h/day for 8 weeks. Follow-up measures were completed immediately post-intervention and 3 months later. Parents from 33 families (29 mothers, 4 fathers) completed baseline measures. Over half of parents (52 %) rated their child's disease severity as mild, 33 % moderate, and 15 % severe. Among 21 parents who completed post-intervention measures, ratings of perceived emotional (p = .0008) and informational (p = .0003) support increased. There were no significant changes in self-efficacy, depression, or anxiety (ps > .05). The mean satisfaction rating was moderately high (7.6/10; range 4-10). Some parents commented that the chat sessions were at inconvenient times, which may have limited participation. Preliminary evidence in this small sample of parents suggests that ISGs may be a feasible and potentially efficacious method of providing support to parents of children with NF1. Having multiple weekly chat sessions held at various days and times may improve accessibility and participation. Clinicians are encouraged to help parents access online support resources.

Neurofibromatosis: a young woman's journey--case study.

Neurofibromatosis is a difficult condition to treat and usually involves multiple surgeries throughout a patient's lifetime. Cutaneous and plexiform fibromas, café-au-lait spots, and optic gliomas are common findings in this hereditary condition. Diagnosis is made through physical examination, magnetic resonance imaging, and family history. The patient described in this article presented with weakness and numbness in her extremities due to spinal cord compression. Continued research on this condition is needed to halt progression and search for a cure. Nurses play a key role in helping patients adjust to this lifetime burden.

Neurofibromatosis.

The two types of neurofibromatosis are NF-1 and NF-2. Both cause abnormal cell growth in the central and peripheral nervous system. Each disease is inherited as an autosomal dominant trait, thus each child of an affected parent has a 50% chance of inheriting the disorder. Because there is no cure for either type of NF and treatment consists of amelioration of clinical symptoms, genetic counseling is the only preventive approach to this disease.

Childhood neurofibromatosis.

Neurofibromatosis is a multifaceted progressive genetic disorder with no known cure. Although early identification is desirable, it is seldom possible since signs and symptoms may take years to manifest sufficiently to confirm a diagnosis. Careful monitoring by a consistent health care provider improves the chances of patient and family receiving appropriate information and care.

Caring for the pregnant woman with neurofibromatosis.

Neurofibromatosis (NF) is one of the most common inherited single-gene disorders in humans, and is expressed as two distinct types: Type I (von Recklinghausen disease) and Type II, which occurs much less frequently. When it was first reported in the obstetric literature in 1906 by Brickner, neurofibromatosis was called "fibroma moluscum contagiosum." This article presents a case of a 20-year-old woman with NF Type I who became pregnant. The clinical challenges of NF and pregnancy are explored through the collaborative relationships between the patient and two clinical nurse specialists from obstetric and neuroscience nursing. The case study provides valuable information for nurses who want to provide evidence-based care.

Neurofibromatosis: relinquishing the masks; a quest for quality of life.

Neurofibromatosis (NF) or von Recklinghausen's disease is mankind's most common neurologic genetic disorder, occurring in one of every 3000 live births. While many individuals with NF suffer disfiguring, disabling, or life-threatening complications, NF is extremely variable in its symptoms, intensity, and progression. For many of its victims, NF is a pseudonym for uncertainty and physical and psychosocial havoc. John Merrick, 'The Elephant Man', endured one of the most severe cases of NF ever recorded. Merrick's rejection by post-Dickensian England forced him to become a sideshow circus attraction just to survive. The essence of nursing intervention with NF patients and their families engaged in the quest for quality of life is to restore them to optimal physical and psychosocial functioning, and, ideally, to help them utilize the experience for growth. Many individuals respond to the frustration of NF and society's reactions to the disorder by the wearing of psychological masks. Likewise, nurses may wear emotional masks as a defence against their own discomfort and fears concerning the disorders. Comprehensive nursing management of NF is realized only as nurses and patients relinquish their respective masks. This article examines the nurse's role in genetic disorders with special considerations presented by NF. Adaptation to NF involves coping with NF and its accompanying sequelae and coping with life as it is affected by NF. The concepts of 'chromosomal coping', 'genetophobia', 'genetic guilt, and 'genetic overload syndrome' are presented and analyzed utilizing the theoretical nursing frameworks of Imogene King and Sister Callista Roy.

Development and implementation of a carboplatin desensitization protocol for children with neurofibromatosis, type 1 and hypersensitivity reactions in an outpatient oncology clinic.

Neurofibromatosis, type 1 (NF 1), is a relatively common disorder. Children with NF 1 are at much greater risk for the development of optic pathway tumors, which are sometimes treated with chemotherapy. As a result, many oncology centers and clinics are now seeing and treating NF patients. One of the most frequently used drugs is carboplatin. However, as many as 30% of NF patients may develop a reaction to carboplatin, which can include anaphylaxis. This often results in the cessation of the medication and treatment protocol. At the Children's Hospital of Philadelphia a desensitization protocol has been instituted with children who have had such reactions and whose tumors have demonstrated a positive response to the treatment. The desensitization process is quite complex and requires an interdisciplinary approach. However, it is the nursing personnel that are key to the successful coordination and delivery of such a protocol in an oncology outpatient clinic on a regular basis.